TEK c.670T>A ;(p.C224S)

Variant ID: 9-27172655-T-A

NM_000459.3(TEK):c.670T>A;(p.C224S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

The Journal Of Clinical Investigation
Souma, Tomokazu T; Tompson, Stuart W SW; Thomson, Benjamin R BR; Siggs, Owen M OM; Kizhatil, Krishnakumar K; Yamaguchi, Shinji S; Feng, Liang L; Limviphuvadh, Vachiranee V; Whisenhunt, Kristina N KN; Maurer-Stroh, Sebastian S; Yanovitch, Tammy L TL; Kalaydjieva, Luba L; Azmanov, Dimitar N DN; Finzi, Simone S; Mauri, Lucia L; Javadiyan, Shahrbanou S; Souzeau, Emmanuelle E; Zhou, Tiger T; Hewitt, Alex W AW; Kloss, Bethany B; Burdon, Kathryn P KP; Mackey, David A DA; Allen, Keri F KF; Ruddle, Jonathan B JB; Lim, Sing-Hui SH; Rozen, Steve S; Tran-Viet, Khanh-Nhat KN; Liu, Xiaorong X; John, Simon S; Wiggs, Janey L JL; Pasutto, Francesca F; Craig, Jamie E JE; Jin, Jing J; Quaggin, Susan E SE; Young, Terri L TL
Publication Date: 2016-07-01

Variant appearance in text: TEK: C224S
PubMed Link: 27270174
Variant Present in the following documents:
  • Main text
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